Publications by authors named "Takehiko Inui"

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Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous Syndrome.
Aritomo Kawashima, Haruhiko Nakamura, Kaori Kodama, Yukimune Okubo, Wakaba Endo, Takehiko Inui

Tohoku J Exp Med· December 2024

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Long-term clinical observation of patients with heterozygous KIF1A variants.
Aritomo Kawashima, Kaori Kodama, Yukimune Okubo, Wakaba Endo, Takehiko Inui

Am J Med Genet A· October 2024

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Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.
Toshiki Inotani, Akira Horaguchi, Yuko Morishita, Ayuko Yoshida, Misaki Otomo, Takehiko Inui

Tohoku J Exp Med· April 2024

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The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy.
Moriei Shibuya, Minobu Shichiji, Miki Ikeda, Kaori Kodama, Takuya Miyabayashi, Takehiko Inui

Tohoku J Exp Med· January 2024

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Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Yukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, Aritomo Kawashima, Kaori Kodama, Takehiko Inui

Brain Dev· October 2023

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A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis.
Yukimune Okubo, Takuya Miyabayashi, Ryo Sato, Wakaba Endo, Takehiko Inui

Brain Dev· November 2022

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Water intoxication: A clue to the presence of classical Fabry disease.
Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui

Brain Dev· September 2022

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Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature.
Moriei Shibuya, Noriko Togashi, Takehiko Inui, Yukimune Okubo, Wakaba Endo

Tohoku J Exp Med· August 2022

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Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Yuta Narishige, Hisao Yaoita, Moriei Shibuya, Miki Ikeda, Kaori Kodama, Takehiko Inui

Tohoku J Exp Med· April 2022

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Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency.
Takehiko Inui, Yoichi Wada, Moriei Shibuya, Natsuko Arai-Ichinoi, Yukimune Okubo

Brain Dev· March 2022

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A patient with early-onset SMAX3 and a novel variant of ATP7A.
Moriei Shibuya, Hisao Yaoita, Kaori Kodama, Yukimune Okubo, Wakaba Endo, Takehiko Inui

Brain Dev· January 2022

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Leigh syndrome-like MRI changes in a patient with biallelic variants treated with ketogenic diet.
Yurika Numata-Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto, Hirotomo Saitsu, Yu Katata, Takehiko Inui

Mol Genet Metab Rep· December 2021

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A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.
Moriei Shibuya, Saki Uneoka, Akira Onuma, Kaori Kodama, Wakaba Endo, Takehiko Inui

Brain Dev· November 2021

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Reduced efficacy of perampanel in patients with severe motor and intellectual disabilities syndrome and drug-resistant epilepsy: A single-center analysis from Japan.
Noriko Togashi, Takehiko Inui, Yukimune Okubo, Wakaba Endo, Moriei Shibuya

Epilepsy Res· November 2021

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Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series.
Shimpei Baba, Tohru Okanishi, Yoichiro Homma, Takeshi Yoshida, Tomohide Goto, Takehiko Inui

Epilepsia Open· June 2021

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A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.
Sota Iwafuchi, Atsuo Kikuchi, Wakaba Endo, Takehiko Inui, Yu Aihara

Brain Dev· February 2021

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Two cases of persistent falcine and occipital sinuses.
Takehiko Inui, Moriei Shibuya, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo

Brain Dev· January 2021

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Reply to: "Letter: Two cases of persistent falcine and occipital sinuses".
Takehiko Inui, Yoshihisa Shimanuki, Harushi Mori, Kazuhiro Haginoya

Brain Dev· January 2021

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Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.
Noriko Togashi, Atsushi Fujita, Moriei Shibuya, Saki Uneoka, Takuya Miyabayashi, Takehiko Inui

Brain Dev· October 2020

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Predicting epileptic encephalopathy using mutation site analysis and in silico algorithms.
Takehiko Inui, Satoru Kobayashi, Kazuhiro Haginoya

Epilepsy Behav· August 2020

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Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.
Takehiko Inui, Kazuhiro Iwama, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo

Eur J Med Genet· March 2020

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Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.
Wakaba Endo, Satoru Ikemoto, Noriko Togashi, Takuya Miyabayashi, Erika Nakajima, Takehiko Inui

Brain Dev· February 2020

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Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.
Sato Suzuki-Muromoto, Takuya Miyabayashi, Koki Nagai, Saeko Yamamura-Suzuki, Mai Anzai, Takehiko Inui

J Hum Genet· May 2019

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A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
Takuya Miyabayashi, Tatsuhiro Ochiai, Naoki Suzuki, Masashi Aoki, Takehiko Inui

J Hum Genet· February 2019

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[F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome.
Kazuhiro Haginoya, Noriko Togashi, Tomohiro Kaneta, Naomi Hino-Fukuyo, Mamiko Ishitobi, Takehiko Inui

Epilepsy Res· November 2018

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